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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease

Terme préférentiel

Gaucher Disease  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. This type shows moderate to severe neurological effect in childhood. This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry. This type usually shows severe neurological effect in the first year of life.

Concept générique

Concepts associés

Synonyme(s)

  • Acid beta-Glucosidase Deficiency
  • Acid beta-Glucosidase Deficiency Disease
  • Cerebroside Lipidosis Syndrome
  • Gaucher's Disease
  • Gauchers Disease
  • Gaucher Splenomegaly
  • Gaucher Syndrome
  • Glucocerebrosidase Deficiency
  • Glucocerebrosidase Deficiency Disease
  • Glucocerebrosidosis
  • Glucosylceramidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency Disease
  • Glucosylceramide Lipidosis
  • Glucosyl Cerebroside Lipidosis
  • Kerasin Histiocytosis
  • Kerasin Lipoidosis
  • Kerasin thesaurismosis
  • Lipoid Histiocytosis (Kerasin Type)

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Gaucher

    français

  • Déficit en bêta-glucocérébrosidase
  • Sphingolipidose héréditaire de Gaucher

URI

http://data.loterre.fr/ark:/67375/JVR-HLT6W05B-B

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 01/07/2021